A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17680



Internal ID15485137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:979976..980737hg38UCSC Ensembl
Outerchr11:979333..981401hg38UCSC Ensembl
Innerchr11:979976..980737hg19UCSC Ensembl
Outerchr11:979333..981401hg19UCSC Ensembl
Innerchr11:969976..970737hg18UCSC Ensembl
Outerchr11:969333..971401hg18UCSC Ensembl
Innerchr11:969976..970737hg17UCSC Ensembl
Outerchr11:969333..971401hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382069
hg192069
hg182069
hg172069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8761
Supporting Variants
SamplesNA12802
Known GenesAP2A2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv17680
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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